A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223495



Internal ID22367246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:116278042..116325888hg38UCSC Ensembl
Outerchr7:115918096..115965942hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3847847
hg1947847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277801
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223495
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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